Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01588:Nedd1'

91496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL01588

Quality Score

Status

Chromosome

Chromosomal Location

92520608-92558282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92522124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 638 (V638L)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020163]

AlphaFold

P33215

Predicted Effect

probably benign
Transcript: ENSMUST00000020163
AA Change: V638L

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: V638L

Domain	Start	End	E-Value	Type
WD40	21	63	5.97e-1	SMART
WD40	67	105	9.75e-3	SMART
WD40	108	147	6.19e-5	SMART
WD40	149	191	6.42e-1	SMART
WD40	194	235	9.1e-3	SMART
WD40	238	276	2.24e-2	SMART
low complexity region	555	568	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157787

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	A	1: 139,405,900 (GRCm39)	S1596T	probably benign	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Csn2	T	C	5: 87,842,508 (GRCm39)	H165R	probably benign	Het
Dido1	A	G	2: 180,330,668 (GRCm39)	V260A	probably benign	Het
Ece1	C	T	4: 137,684,517 (GRCm39)		probably benign	Het
Garem1	T	G	18: 21,262,854 (GRCm39)	R653S	probably damaging	Het
Gpatch2	A	T	1: 186,962,991 (GRCm39)	S261C	probably damaging	Het
Ing4	A	G	6: 125,020,949 (GRCm39)	N24D	possibly damaging	Het
Klhdc7a	A	T	4: 139,694,257 (GRCm39)	V230D	probably damaging	Het
Ly96	G	A	1: 16,779,678 (GRCm39)	V116I	probably benign	Het
Myom1	C	T	17: 71,424,432 (GRCm39)	T1427M	possibly damaging	Het
Or52d3	C	T	7: 104,229,150 (GRCm39)	S99F	probably damaging	Het
Or5d35	T	C	2: 87,855,417 (GRCm39)	V117A	probably benign	Het
Or8g30	G	A	9: 39,230,128 (GRCm39)	Q261*	probably null	Het
Pbx2	T	C	17: 34,814,592 (GRCm39)		probably benign	Het
Phlpp1	A	T	1: 106,308,119 (GRCm39)	H1132L	probably damaging	Het
Plpp5	T	A	8: 26,214,195 (GRCm39)	H237Q	probably damaging	Het
Stard13	C	T	5: 150,968,702 (GRCm39)	R856H	probably damaging	Het
Sult1e1	T	C	5: 87,724,102 (GRCm39)	K285R	probably benign	Het
Ubxn8	C	T	8: 34,111,587 (GRCm39)	V269M	probably damaging	Het
Usp29	A	T	7: 6,965,610 (GRCm39)	K484N	probably benign	Het
Whrn	C	T	4: 63,391,015 (GRCm39)	V80M	probably damaging	Het
Znhit6	A	G	3: 145,301,962 (GRCm39)		probably benign	Het

Other mutations in Nedd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Nedd1	APN	10	92,530,836 (GRCm39)	splice site	probably benign
IGL00988:Nedd1	APN	10	92,525,548 (GRCm39)	missense	possibly damaging	0.71
IGL01563:Nedd1	APN	10	92,534,031 (GRCm39)	critical splice donor site	probably null
IGL01988:Nedd1	APN	10	92,550,021 (GRCm39)	missense	probably benign	0.39
IGL02706:Nedd1	APN	10	92,522,147 (GRCm39)	missense	possibly damaging	0.88
IGL02938:Nedd1	APN	10	92,525,519 (GRCm39)	nonsense	probably null
IGL03011:Nedd1	APN	10	92,525,503 (GRCm39)	missense	possibly damaging	0.92
Brainless	UTSW	10	92,526,635 (GRCm39)	missense	probably benign	0.01
R0125:Nedd1	UTSW	10	92,527,791 (GRCm39)	missense	possibly damaging	0.93
R0173:Nedd1	UTSW	10	92,534,745 (GRCm39)	missense	probably benign	0.30
R0244:Nedd1	UTSW	10	92,552,127 (GRCm39)	intron	probably benign
R0645:Nedd1	UTSW	10	92,527,693 (GRCm39)	splice site	probably null
R0791:Nedd1	UTSW	10	92,555,476 (GRCm39)	missense	probably damaging	1.00
R1490:Nedd1	UTSW	10	92,536,660 (GRCm39)	missense	probably damaging	1.00
R1522:Nedd1	UTSW	10	92,555,476 (GRCm39)	missense	probably damaging	1.00
R1797:Nedd1	UTSW	10	92,534,601 (GRCm39)	missense	possibly damaging	0.46
R1984:Nedd1	UTSW	10	92,550,022 (GRCm39)	missense	possibly damaging	0.63
R2474:Nedd1	UTSW	10	92,555,465 (GRCm39)	missense	probably damaging	0.99
R2877:Nedd1	UTSW	10	92,549,988 (GRCm39)	missense	possibly damaging	0.89
R2883:Nedd1	UTSW	10	92,530,860 (GRCm39)	missense	probably damaging	0.98
R4694:Nedd1	UTSW	10	92,555,444 (GRCm39)	missense	probably benign	0.00
R4798:Nedd1	UTSW	10	92,534,772 (GRCm39)	missense	probably benign	0.00
R4830:Nedd1	UTSW	10	92,522,120 (GRCm39)	missense	probably damaging	1.00
R4963:Nedd1	UTSW	10	92,530,893 (GRCm39)	missense	probably damaging	1.00
R5174:Nedd1	UTSW	10	92,547,074 (GRCm39)	missense	possibly damaging	0.77
R5329:Nedd1	UTSW	10	92,522,102 (GRCm39)	missense	probably damaging	1.00
R5404:Nedd1	UTSW	10	92,552,054 (GRCm39)	missense	probably benign	0.04
R5534:Nedd1	UTSW	10	92,530,894 (GRCm39)	missense	probably benign	0.01
R6045:Nedd1	UTSW	10	92,530,962 (GRCm39)	nonsense	probably null
R6154:Nedd1	UTSW	10	92,534,104 (GRCm39)	missense	possibly damaging	0.65
R6512:Nedd1	UTSW	10	92,527,737 (GRCm39)	missense	probably benign
R6692:Nedd1	UTSW	10	92,534,199 (GRCm39)	missense	possibly damaging	0.88
R6693:Nedd1	UTSW	10	92,534,199 (GRCm39)	missense	possibly damaging	0.88
R6943:Nedd1	UTSW	10	92,547,168 (GRCm39)	missense	probably damaging	1.00
R7011:Nedd1	UTSW	10	92,526,635 (GRCm39)	missense	probably benign	0.01
R7406:Nedd1	UTSW	10	92,547,185 (GRCm39)	splice site	probably null
R7455:Nedd1	UTSW	10	92,536,787 (GRCm39)	missense	probably benign	0.01
R7587:Nedd1	UTSW	10	92,534,592 (GRCm39)	missense	probably benign	0.01
R7745:Nedd1	UTSW	10	92,550,034 (GRCm39)	missense	probably benign
R8104:Nedd1	UTSW	10	92,527,778 (GRCm39)	missense	probably damaging	1.00
R8209:Nedd1	UTSW	10	92,527,797 (GRCm39)	missense	probably benign
R8226:Nedd1	UTSW	10	92,527,797 (GRCm39)	missense	probably benign
R8925:Nedd1	UTSW	10	92,558,258 (GRCm39)	start gained	probably benign
R8927:Nedd1	UTSW	10	92,558,258 (GRCm39)	start gained	probably benign

Posted On

2013-12-09